. Author manuscript; available in PMC: 2012 Oct 1.

Published in final edited form as: Am J Kidney Dis. 2011 Aug 24;58(4):666–677. doi: 10.1053/j.ajkd.2011.05.032

Table 3.

Common Forms of Familial FSGS

Gene (protein effected)	Inheritance	Typical Age of Onset	Distinguishing Clinical Features
NPHS1 (nephrin)	AR	infancy	Congenital nephrotic syndrome (Finnish type); severe nephrosis leading to ESRD
NPHS2 (podocin)	AR	3 mo-5 y	10–20% of SRNS in children
WT1 (Wilms tumor 1)	AD	child	Diffuse mesangial sclerosis/FSGS +/− Wilms tumor or urogenital lesions
PLCε1 (phospholipase Cε1)	AR	4 mo-12 y	Diffuse mesangial sclerosis/FSGS
CD2AP (CD2- associated protein)	AR	<6 y	Rre, progresses to ESRD
INF2 (inverted formin 2)	AD	Teen/young adult	Mild nephrotic syndrome, but progressive CKD
ACTN4 (α- actinin 4)	AD	Any age	Mild nephrotic syndrome, may develop progressive CKD
TRPC6	AD	Adult (age 20- 35)	Nephrotic, progressive CKD
tRNA^Leu(UUR) gene	Mitochondrial DNA	Adult	May be associated deafness, diabetes, muscle problems, retinopathy (maternal inheritance)

Abbreviations: AR, autosomal recessive; AD, autosomal dominant; CKD, Chronic Kidney Disease; ESRD, End-Stage Renal Disease; FSGS, Focal Segmental Glomerulosclerosis; tRNA, transfer RNA; Leu, leucine; TRPC6, transient receptor potential cation channel 6;